DISEASES

Disease-gene associations mined from literature

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Human genes for Camurati-Engelmann disease

Camurati-Engelmann disease [DOID:4997]

An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.

Synonyms:  Camurati-Engelmann disease,  CamuratiEngelmann disease,  Camurati-Engelmann disorder,  Camurati-Engelmann syndrome,  Camurati-Engelmann diseases ...

Linkouts:  OMIM #1 #2

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.